Canonical Allele Identifier: CA381652630

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703962T>C (hg19) ; chr11:g.68936494T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936494T>C , CM000673.2:g.68936494T>C	GRCh38
NC_000011.9:g.68703962T>C , CM000673.1:g.68703962T>C	GRCh37
NC_000011.8:g.68460538T>C	NCBI36
NG_007976.1:g.37644T>C , LRG_250:g.37644T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2014T>C MANE Select	ENSP00000255078.4:p.Ser672Pro
ENST00000674675.1:c.258T>C
ENST00000674878.1:c.258T>C
ENST00000674955.1:c.*731T>C	ENSP00000502463.1:n.*731T>C
ENST00000675118.1:c.1502T>C
ENST00000675389.1:n.289T>C
ENST00000675615.1:c.2014T>C	ENSP00000502413.1:p.Ser672Pro
ENST00000675648.1:n.1389T>C
ENST00000675916.1:c.258T>C
ENST00000676173.1:n.2759T>C
ENST00000676182.1:c.445T>C
ENST00000676228.1:c.*1337T>C	ENSP00000502375.1:n.*1337T>C
ENST00000255078.7:c.2014T>C	ENSP00000255078.3:p.Ser672Pro
ENST00000539064.5:n.1773T>C
ENST00000543739.5:n.1007T>C
NM_002180.2:c.2014T>C , LRG_250t1:c.2014T>C	NP_002171.2:p.Ser672Pro
XM_005273974.2:c.1003T>C	XP_005274031.1:p.Ser335Pro
XM_005273975.2:c.886T>C	XP_005274032.1:p.Ser296Pro
XM_011544994.1:c.781T>C	XP_011543296.1:p.Ser261Pro
XR_949903.1:n.2116T>C
XM_005273975.3:c.886T>C	XP_005274032.1:p.Ser296Pro
XM_017017669.2:c.1003T>C	XP_016873158.1:p.Ser335Pro
XM_017017670.2:c.1003T>C	XP_016873159.1:p.Ser335Pro
XR_949903.3:n.2112T>C
NM_002180.3:c.2014T>C MANE Select	NP_002171.2:p.Ser672Pro